1. Aishworiya R, Protic D, Hagerman R. Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications. J Neurol;2022 (Jun 20)

There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD) with multiple forms of ASD having been identified over the decades. Among these, a genetic etiology can be identified in 20-40% of cases when a full genetic work-up is completed. The Fragile X premutation state (characterized by the presence of 55-200 CGG repeats in the FMR1 gene) is a relatively newly identified disease state that has since been associated with several disorders including fragile X-associated tremor ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI) and most recently, fragile X-associated neurodevelopmental disorders (FXAND) which commonly includes anxiety and depression. In addition to these associated disorders, extant literature and clinical observations have suggested an association between the premutation state and ASD. In this paper, we review the literature pertinent to this and discuss possible molecular mechanisms that may explain this association. This includes lowered levels of the FMR1 Protein (FMRP), GABA deficits, mitochondrial dysfunction and secondary genetic abnormalities that is seen in premutation carriers as well as their increased vulnerability to environmental stressors. Understanding these mechanisms can facilitate development of targeted treatment for specific sub-groups of ASD and premutation disorders in future.

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2. Alkire D, McNaughton KA, Yarger HA, Shariq D, Redcay E. Theory of mind in naturalistic conversations between autistic and typically developing children and adolescents. Autism;2022 (Jun 20):13623613221103699.

Conversation is a key part of everyday social interactions. Previous studies have suggested that conversational skills are related to theory of mind, the ability to think about other people’s mental states, such as beliefs, knowledge, and emotions. Both theory of mind and conversation are common areas of difficulty for autistic people, yet few studies have investigated how people, including autistic people, use theory of mind during conversation. We developed a new way of measuring cToM using two rating scales: cToM Positive captures behaviors that show consideration of a conversation partner’s mental states, such as referring to their thoughts or feelings, whereas cToM Negative captures behaviors that show a lack of theory of mind through violations of neurotypical conversational norms, such as providing too much, too little, or irrelevant information. We measured cToM in 50 pairs of autistic and typically developing children (ages 8-16 years) during 5-min « getting to know you » conversations. Compared to typically developing children, autistic children displayed more frequent cToM Negative behaviors but very similar rates of cToM Positive behaviors. Across both groups, cToM Negative (but not Positive) ratings were related to difficulties in recognizing emotions from facial expressions and a lower tendency to talk about others’ mental states spontaneously (i.e., without being instructed to do so), which suggests that both abilities are important for theory of mind in conversation. Altogether, this study highlights both strengths and difficulties among autistic individuals, and it suggests possible avenues for further research and for improving conversational skills.

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3. Arija V, Esteban-Figuerola P, Morales-Hidalgo P, Jardí C, Canals-Sans J. Nutrient intake and adequacy in children with autism spectrum disorder: EPINED epidemiological study. Autism;2022 (Jun 20):13623613221098237.

Children with autism spectrum disorder (ASD) have a fivefold elevated risk of developing eating problems, which predisposes them to nutritional deficiencies. This study assesses nutritional intake and adequacy in children with ASD, subdiagnostic autistic symptoms and typically developing (TD) children. Preschool children with ASD and subdiagnostic symptoms had slightly lower intake of monounsaturated fatty acids (MUFA), vitamin D and vitamin B12. Primary school children with ASD and subdiagnostic symptoms had slightly higher intake of protein, cholesterol, thiamine and niacin, and a higher percentage of obesity than children with TD. All children had a high intake in sugars, fats and saturated fatty acids; a very highly inadequate intake of vitamins (vitamins D and E), fibre, b-carotene, calcium and magnesium; and a moderately inadequate intake of vitamin C, folate and iron. However, although all children need nutrition advice, children with ASD and subdiagnostic autistic symptoms had a poorer quality diet than those with TD.

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4. Baranova A, Wang J, Cao H, Chen JH, Chen J, Chen M, Ni S, Xu X, Ke X, Xie S, Sun J, Zhang F. Shared genetics between autism spectrum disorder and attention-deficit/hyperactivity disorder and their association with extraversion. Psychiatry Res;2022 (Jun 13);314:114679.

BACKGROUND: Deciphering the genetic relationships between autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) may uncover underlining shared pathophysiology as well as inform treatment. METHODS: The summary results of genome-wide association studies on ADHD, ASD, and extraversion were utilized for the analyzes. Genetic correlations between ADHD, ASD, and extraversion were tested using linkage disequilibrium score regression. Causal relationships between ADHD, ASD, and extraversion were investigated using Mendelian randomization (MR) analysis. Novel pleiotropic genomic loci shared by ADHD and ASD were identified using a cross-trait meta-analysis. RESULTS: Extraversion was positively correlated with ADHD (r(g) = 0.205) and negatively correlated with ASD (r(g) = -0.193). The MR analysis showed that ADHD confers a causal effect on ASD (OR: 1.35, 95% confidence interval (CI):1.20-1.52) and vice versa (1.46, 1.38-1.55). Extraversion exerts a causal effect on ADHD only (1.19, 1.05-1.33). The cross-trait meta-analysis identified three novel pleiotropic genomic loci for ADHD and ASD, involving two pleiotropic genes, LINC00461 and KIZ. CONCLUSIONS: Our study provides new insights into the shared genetics of ADHD and ASD and their connections with extraversion.

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5. Cooper CM, Rosen T, Kim H, Eaton NR, Cohn E, Drahota A, Moskowitz LJ, Lerner MD, Kerns CM. Predictors of expert providers’ familiarity with intervention practices for school- and transition-age youth with autism spectrum disorder. Autism;2022 (Jun 20):13623613221100787.

School-age children, adolescents, and young adults with autism spectrum disorder encounter many different types of providers in their pursuit of treatment for anxiety, behavior problems, and social difficulties. These providers may all be familiar with different types of intervention practices. However, research has not yet investigated patterns in expert providers’ familiarity with different practices nor how these patterns are related to the characteristics of providers (years in practice, academic discipline, setting) and the youth (age and intellectual disability) they typically support. A panel of 53 expert transdisciplinary providers rated their familiarity with 55 intervention practices (derived from research and expert nominations) via an online Delphi poll. Advanced statistical methods were used to identify types of intervention practices with which providers were familiar, which included two approaches (cognitive and behavioral) and two strategies (engagement and accessibility). Providers who practiced outside a school setting or treated clients without intellectual disability were more familiar with cognitive approaches. Clinical psychologists, behavior analysts, and school-based providers were more familiar with behavioral approaches. Providers practicing outside school settings were also more familiar with engagement strategies, and providers with more years in practice were more familiar with accessibility strategies. These results may help families and researchers to better anticipate how services may vary depending on the types of autism spectrum disorder providers seen and work to reduce disparities in care that may result.

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6. Hirsch KM, Reidenberg BE. COVID-19 vaccine effectiveness in adults with developmental disabilities living in group homes. Public Health;2022 (May 20)

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7. Jian J, Li LG, Zhao PJ, Zheng RJ, Dong XW, Zhao YH, Yin BQ, Cheng H, Li HL, Li EY. TCHis mitigate oxidative stress and improve abnormal behavior in a prenatal valproic acid-exposed rat model of autism. Physiol Genomics;2022 (Jun 20)

Objective Troxerutin is known for its anti-inflammatory and antioxidative effects in nerve impairment. The purpose of this study is to investigate the effect of troxerutin and cerebroprotein hydrolysate injections (TCHis) on prenatal valproic acid (VPA)-exposed rats. Methods The VPA was administered to pregnant rats on gestational day 12.5 to induce a model of autism. The offsprings were given the treatment of TCHis on postnatal day (PND) 21-50. On PND 43-50, the behavioral analysis of offsprings was performed after the treatment of TCHis for 1 h. On PND 50, the offsprings were harvested and the brains were collected. The hippocampus and prefrontal cortex were isolated for relevant biochemical detections. Results The administration of TCHis increased the pain sensitivity and improved abnormal social behaviors in prenatal VPA-exposed rats. Prenatal expose of VPA induced neuronal loss and apoptosis, enhanced reactive oxygen species (ROS) production, and promoted oxidative stress in hippocampus and prefrontal cortex, while these effects were reversed by the postnatal treatment of TCHis. In addition, postnatal administration of TCHis ameliorated mitochondrial function in hippocampus and prefrontal cortex of prenatal VPA-exposed rats. Conclusion This study concluded that postnatal treatment of TCHis reduced oxidative stress and ameliorated abnormal behavior in a prenatal VPA-induced rat model of autism.

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8. Mitchell RA, Mitchell M, Williams K. The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta-analysis. Dev Med Child Neurol;2022 (Jun 20)

AIM: To investigate the phenotype in autistic children with tuberous sclerosis complex (TSC), specifically autism spectrum disorder (ASD) severity and characteristics, intellectual ability, adaptive and executive function, language skills, attention-deficit/hyperactivity disorder features, and internalizing and externalizing behaviours. METHOD: MEDLINE, Embase, and the Cochrane Library were searched up to March 2021. Studies that investigated predefined phenotypic factors in children with TSC-ASD were included according to the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) guidelines. Two authors independently reviewed titles, abstracts, full texts, and extracted the data. Risk of bias and GRADE assessments were completed. RESULTS: Thirty-four studies with 3160 children with TSC, 30% with ASD, were included. Meta-analysis found that 90% (95% confidence interval 86%-94%) of children with TSC-ASD have an intellectual disability. There was some evidence to suggest that young children with TSC-ASD and idiopathic ASD have a similar pattern of severity and behaviour. Overall, data about phenotypic characteristics were limited. INTERPRETATION: A greater proportion of children with TSC-ASD are reported to have an intellectual disability than children with idiopathic ASD. Early intervention should consider the needs of children with a high likelihood of intellectual disability. Research is needed to better understand the impacts of intellectual disability and other co-occurring difficulties on adaptive function, participation, and quality of life in TSC-ASD.

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9. Ribeiro TC, Farhat LC, Casella E, Graeff-Martins AS, Baron-Cohen S, Allison C, Polanczyk GV. Brazilian Portuguese Childhood Autism Spectrum Test: an investigation of the factor structure of autistic traits in school-aged children from Brazil. Braz J Psychiatry;2022 (Jun 20)

OBJECTIVE: There is limited evidence about the cross-cultural validity of autistic symptoms in school-aged children in Brazil. METHODS: We translated the Childhood Autism Spectrum Test scale to Brazilian Portuguese and performed factor analyses to investigate the factor structure of parent-reported autistic symptoms in a large sample (N = 8571) of children/adolescents from a school survey in the metropolitan area of São Paulo. RESULTS: Autistic symptoms were best conceptualized under a correlated-factors model with two factors: one predominantly characterized by social-communication symptoms and the other by inflexible/restricted language, behaviours, and interests symptoms. CONCLUSIONS: These findings provide evidence that the structure of autistic symptoms in Brazil is similar to that described in other countries, indicating the cross-cultural validity of autism in Brazil.

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10. Romero-Galisteo RP, González-Sánchez M, Costa L, Brandão R, Ramalhete C, Leão C, Jacobsohn L. Outcome measurement instruments in Rett syndrome: A systematic review. Eur J Paediatr Neurol;2022 (Jun 12);39:79-87.

OBJECTIVE: The aim of the study was to identify and characterize outcome measures for objective and subjective assessment in persons with Rett syndrome (RS). METHODS: A systematic review was conducted consulting the EBSCO, Cochrane, Web of Science, Scielo, MEDLINE and PsycINFO databases for published studies describing the use of patient-reported outcome measures (PROMs) and other outcome measures in persons with RS. Validation studies and observational studies were included. The PROMs were first described, and then the measurement properties were evaluated using predefined criteria according to the COnsensus-based Standards for the selection of health Measurement Instruments (COSMIN). The outcome measures were then grouped according to the International Classification of Functioning, Disability and Health (ICF) to establish a relationship between outcome measures and ICF domains. RESULTS: Twenty out of 2327 articles were appraised, and seventeen different outcome measures were identified and described. Ten outcome measures corresponded to evaluation questionnaires, while the remaining seven assessed functional outcomes: walking distance, physical activity level and ability to interact visually. A relation between these outcome measures that assess RS and the ICF allows understanding that most of the instruments (fifteen) include the assessment of activity limitations. CONCLUSIONS: The findings of this study seem to be promising for their use by clinicians and researchers, although they have methodological limitations. The accuracy and quality of these individual outcome measures should continue to be assessed in an attempt to gather a consensus on the best tools used in RS.

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11. Zhao YH, Fu HG, Cheng H, Zheng RJ, Wang G, Li S, Li EY, Li LG. Electroacupuncture at Zusanli ameliorates the autistic-like behaviors of rats through activating the Nrf2-mediated antioxidant responses. Gene;2022 (Jun 20);828:146440.

OBJECTIVE: Emerging evidence suggests that acupuncture plays a neuroprotective role in autism. This study aimed to explore the effect of electroacupuncture at Zusanli (ST36) on autistic-like behaviors and the underlying mechanism. METHOD: Pregnant rats were administered with valproic acid (VPA) on gestational day 12.5 to induce an autism spectrum disorder (ASD) model. The pups were given electroacupuncture at ST36 daily from postnatal day (PND) 28-48. On PND28, the adenoviral vector containing small interfering RNA Nrf2 (Ad-siRNA-Nrf2) was injected into the prefrontal cortex of rats. The behavioral analysis was performed on PND 44-48. On PND48, the animals were euthanized and the brains were collected for further detection. Nissl staining was performed to detect neuronal viability. The biochemical markers of oxidative stress were subsequently measured. RESULT: Electroacupuncture at ST36 ameliorated the locomotor activity, social behavior, spatial learning and memory and repetitive behavior compared with ASD rats. It was notable that the electroacupuncture decreased oxidative stress markers in the tissues of prefrontal cortex, enhanced translocation of nuclear factor erythroid2-related factor2 (Nrf2) from cytoplasm to nucleus, and up-regulated the levels of NADP(H) quinone oxidoreductase (NQO1) and heme oxygenase (HO-1). However, these effects induced by electroacupuncture at ST36 were abolished after injection of Ad-siRNA-Nrf2. CONCLUSION: These data suggested that electroacupuncture at ST36 protected nerve function in ASD rats through Nrf2 activation and the antioxidant response.

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